Canonical Allele Identifier: CA379798533

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17404641-C-T
• MyVariant Identifiers: chr11:g.17426188C>T (hg19) ; chr11:g.17404641C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17404641C>T , CM000673.2:g.17404641C>T	GRCh38
NC_000011.9:g.17426188C>T , CM000673.1:g.17426188C>T	GRCh37
NC_000011.8:g.17382764C>T	NCBI36
NG_008867.1:g.77262G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2997G>A
ENST00000528374.2:c.7G>A
ENST00000529967.6:n.1767G>A
ENST00000532220.2:n.1160G>A
ENST00000642611.2:n.3497G>A
ENST00000645004.2:n.927G>A
ENST00000682051.1:n.3444G>A
ENST00000682110.1:n.3497G>A
ENST00000682140.1:c.3425G>A	ENSP00000507829.1:p.Ser1142Asn
ENST00000682185.1:n.4733G>A
ENST00000682204.1:c.*1566G>A	ENSP00000507094.1:n.*1566G>A
ENST00000682215.1:n.3494G>A
ENST00000682288.1:c.*1859G>A	ENSP00000507506.1:n.*1859G>A
ENST00000682442.1:n.3717G>A
ENST00000682528.1:n.3574G>A
ENST00000682673.1:n.3441G>A
ENST00000682805.1:n.3494G>A
ENST00000682965.1:c.3396+853G>A	ENSP00000508229.1:n.3396+853G>A
ENST00000683093.1:n.3596G>A
ENST00000683136.1:c.3425G>A	ENSP00000507768.1:p.Ser1142Asn
ENST00000683153.1:n.3653G>A
ENST00000683365.1:n.3599G>A
ENST00000683377.1:n.3497G>A
ENST00000683456.1:c.*565G>A	ENSP00000508318.1:n.*565G>A
ENST00000683522.1:n.3497G>A
ENST00000683562.1:c.*1597G>A	ENSP00000508265.1:n.*1597G>A
ENST00000683693.1:n.3574G>A
ENST00000683725.1:c.3428G>A	ENSP00000507496.1:p.Ser1143Asn
ENST00000684010.1:n.3492G>A
ENST00000684157.1:n.3497G>A
ENST00000684253.1:n.3400G>A
ENST00000684288.1:c.*1600G>A	ENSP00000507143.1:n.*1600G>A
ENST00000684313.1:n.2929G>A
ENST00000684332.1:n.3570G>A
ENST00000684371.1:n.3603G>A
ENST00000684404.1:n.3540G>A
ENST00000684442.1:n.3497G>A
ENST00000684555.1:c.*1640G>A	ENSP00000507705.1:n.*1640G>A
ENST00000684571.1:c.3269G>A	ENSP00000506935.1:p.Ser1090Asn
ENST00000684593.1:c.*3133G>A	ENSP00000507005.1:n.*3133G>A
ENST00000684711.1:c.*1824G>A	ENSP00000506841.1:n.*1824G>A
ENST00000302539.9:c.3431G>A	ENSP00000303960.4:p.Ser1144Asn
ENST00000389817.8:c.3428G>A MANE Select	ENSP00000374467.4:p.Ser1143Asn
ENST00000642271.1:c.3425G>A	ENSP00000493749.1:p.Ser1142Asn
ENST00000642579.1:c.1512G>A
ENST00000642611.1:n.3382G>A
ENST00000642902.1:c.3210G>A
ENST00000643260.1:c.3428G>A	ENSP00000494450.1:p.Ser1143Asn
ENST00000643562.1:c.*1404G>A	ENSP00000496124.1:n.*1404G>A
ENST00000643925.1:c.1552G>A
ENST00000644447.1:c.1784G>A	ENSP00000496282.1:p.Ser595Asn
ENST00000644484.1:c.*1683G>A	ENSP00000493558.1:n.*1683G>A
ENST00000644675.1:c.*1600G>A	ENSP00000494567.1:n.*1600G>A
ENST00000644757.1:c.*1713G>A	ENSP00000495085.1:n.*1713G>A
ENST00000644772.1:c.3494G>A	ENSP00000494321.1:p.Ser1165Asn
ENST00000645004.1:n.567G>A
ENST00000645076.1:c.2627G>A
ENST00000645417.1:c.594G>A
ENST00000645744.1:c.*1692G>A	ENSP00000494564.1:n.*1692G>A
ENST00000645760.1:c.3703G>A
ENST00000645884.1:c.*565G>A	ENSP00000495516.1:n.*565G>A
ENST00000646003.1:c.*1384G>A	ENSP00000495259.1:n.*1384G>A
ENST00000646207.1:c.*1895G>A	ENSP00000495025.1:n.*1895G>A
ENST00000646276.1:c.*1701G>A	ENSP00000496070.1:n.*1701G>A
ENST00000646592.1:c.2734G>A
ENST00000646902.1:c.3425G>A	ENSP00000494101.1:p.Ser1142Asn
ENST00000646993.1:c.*1824G>A	ENSP00000493720.1:n.*1824G>A
ENST00000647013.1:c.3434G>A	ENSP00000496741.1:n.3434G>A
ENST00000647015.1:c.3179G>A	ENSP00000495389.1:p.Ser1060Asn
ENST00000647086.1:c.*3158G>A	ENSP00000493677.1:n.*3158G>A
ENST00000647158.1:c.*1569G>A	ENSP00000495744.1:n.*1569G>A
ENST00000302539.8:c.3431G>A	ENSP00000303960.4:p.Ser1144Asn
ENST00000389817.7:c.3428G>A	ENSP00000374467.3:p.Ser1143Asn
ENST00000524561.1:n.560G>A
ENST00000527905.5:c.*304G>A	ENSP00000431653.1:n.*304G>A
NM_000352.4:c.3428G>A	NP_000343.2:p.Ser1143Asn
NM_001287174.1:c.3431G>A	NP_001274103.1:p.Ser1144Asn
XM_011520331.1:c.3428G>A	XP_011518633.1:p.Ser1143Asn
XM_011520332.1:c.3431G>A	XP_011518634.1:p.Ser1144Asn
XM_011520333.1:c.1928G>A	XP_011518635.1:p.Ser643Asn
XR_930890.1:n.3494G>A
XR_930892.1:n.3394G>A
XR_930893.1:n.3391G>A
NM_001351295.1:c.3494G>A	NP_001338224.1:p.Ser1165Asn
NM_001351296.1:c.3428G>A	NP_001338225.1:p.Ser1143Asn
NM_001351297.1:c.3425G>A	NP_001338226.1:p.Ser1142Asn
NR_147094.1:n.3577G>A
XM_017018197.2:c.3497G>A	XP_016873686.1:p.Ser1166Asn
XM_017018199.1:c.3494G>A	XP_016873688.1:p.Ser1165Asn
XM_017018201.2:c.3497G>A	XP_016873690.1:p.Ser1166Asn
XM_017018202.1:c.1994G>A	XP_016873691.1:p.Ser665Asn
XM_017018204.1:c.1385G>A	XP_016873693.1:p.Ser462Asn
XM_024448668.1:c.1796G>A	XP_024304436.1:p.Ser599Asn
XR_001747945.2:n.3569G>A
XR_001747946.2:n.3500G>A
XR_002957189.1:n.3649G>A
NM_000352.6:c.3428G>A MANE Select	NP_000343.2:p.Ser1143Asn
NM_001287174.2:c.3431G>A	NP_001274103.1:p.Ser1144Asn
NM_001351295.2:c.3494G>A	NP_001338224.1:p.Ser1165Asn
NM_001351296.2:c.3428G>A	NP_001338225.1:p.Ser1143Asn
NM_001351297.2:c.3425G>A	NP_001338226.1:p.Ser1142Asn
NR_147094.2:n.3577G>A
NM_001287174.3:c.3431G>A	NP_001274103.1:p.Ser1144Asn